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Article

Multiple mitochondrial DNA deletions in monozygotic twins with OPMD.

Journal of neurology, neurosurgery, and psychiatry - 1 Jan 2008

Muqit M M K, Larner A J, Sweeney M G, Sewry C, Stinton V J, Davis M B, Healy D G, Payne S J, Chotai K, Wood N W, Lane R J M

Abstract excerpt

BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is caused by expansions of the poly (A) binding protein 2 (PABP2) gene. Previous histological analyses have revealed mitochondrial abnormalities in the muscles of OPMD patients but their significance remains uncertain. OBJECTIVE: We had the ra...

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Share to Biopsy
Share to Blotting, Southern
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Muscle, Skeletal

Share to Muscular Dystrophy, Oculopharyngeal

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Share to Twins, Monozygotic

Source

Identifiers

PMID: 17550990
DOI: 10.1136/jnnp.2006.112250

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17550990-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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